LOCUS       NM_013438               3868 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens ubiquilin 1 (UBQLN1), transcript variant 1, mRNA.
ACCESSION   NM_013438
VERSION     NM_013438.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3868)
  AUTHORS   Zhao,S., Li,J., Duan,S., Liu,C., Wang,H., Lu,J., Zhao,N., Sheng,X.,
            Wu,Y., Li,Y., Sun,B. and Liu,L.
  TITLE     UBQLN1 links proteostasis and mitochondria function to telomere
            maintenance in human embryonic stem cells
  JOURNAL   Stem Cell Res Ther 15 (1), 180 (2024)
   PUBMED   38902824
  REMARK    GeneRIF: UBQLN1 links proteostasis and mitochondria function to
            telomere maintenance in human embryonic stem cells.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3868)
  AUTHORS   Zhou,H., Xie,C., Xie,Y., He,Y., Chen,Y., Zhang,C., Zhang,Y.,
            Zhao,Y. and Liu,H.
  TITLE     UBQLN1 deficiency mediates telomere shortening and IPF through
            interacting with RPA1
  JOURNAL   PLoS Genet 19 (7), e1010856 (2023)
   PUBMED   37463174
  REMARK    GeneRIF: UBQLN1 deficiency mediates telomere shortening and IPF
            through interacting with RPA1.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3868)
  AUTHORS   Kim,D.K., Weller,B., Lin,C.W., Sheykhkarimli,D., Knapp,J.J.,
            Dugied,G., Zanzoni,A., Pons,C., Tofaute,M.J., Maseko,S.B.,
            Spirohn,K., Laval,F., Lambourne,L., Kishore,N., Rayhan,A.,
            Sauer,M., Young,V., Halder,H., la Rosa,N.M., Pogoutse,O.,
            Strobel,A., Schwehn,P., Li,R., Rothballer,S.T., Altmann,M.,
            Cassonnet,P., Cote,A.G., Vergara,L.E., Hazelwood,I., Liu,B.B.,
            Nguyen,M., Pandiarajan,R., Dohai,B., Coloma,P.A.R., Poirson,J.,
            Giuliana,P., Willems,L., Taipale,M., Jacob,Y., Hao,T., Hill,D.E.,
            Brun,C., Twizere,J.C., Krappmann,D., Heinig,M., Falter,C., Aloy,P.,
            Demeret,C., Vidal,M., Calderwood,M.A., Roth,F.P. and
            Falter-Braun,P.
  TITLE     A proteome-scale map of the SARS-CoV-2-human contactome
  JOURNAL   Nat Biotechnol 41 (1), 140-149 (2023)
   PUBMED   36217029
REFERENCE   4  (bases 1 to 3868)
  AUTHORS   Viard,J., Loe-Mie,Y., Daudin,R., Khelfaoui,M., Plancon,C.,
            Boland,A., Tejedor,F., Huganir,R.L., Kim,E., Kinoshita,M., Liu,G.,
            Haucke,V., Moncion,T., Yu,E., Hindie,V., Blehaut,H., Mircher,C.,
            Herault,Y., Deleuze,J.F., Rain,J.C., Simonneau,M. and
            Lepagnol-Bestel,A.M.
  TITLE     Chr21 protein-protein interactions: enrichment in proteins involved
            in intellectual disability, autism, and late-onset Alzheimer's
            disease
  JOURNAL   Life Sci Alliance 5 (12), e202101205 (2022)
   PUBMED   35914814
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3868)
  AUTHORS   Shah,P.P., Saurabh,K., Kurlawala,Z., Vega,A.A., Siskind,L.J. and
            Beverly,L.J.
  TITLE     Towards a molecular understanding of the overlapping and distinct
            roles of UBQLN1 and UBQLN2 in lung cancer progression and
            metastasis
  JOURNAL   Neoplasia 25, 1-8 (2022)
   PUBMED   35063704
  REMARK    GeneRIF: Towards a molecular understanding of the overlapping and
            distinct roles of UBQLN1 and UBQLN2 in lung cancer progression and
            metastasis.
REFERENCE   6  (bases 1 to 3868)
  AUTHORS   Hanaoka,E., Ozaki,T., Ohira,M., Nakamura,Y., Suzuki,M.,
            Takahashi,E., Moriya,H., Nakagawara,A. and Sakiyama,S.
  TITLE     Molecular cloning and expression analysis of the human DA41 gene
            and its mapping to chromosome 9q21.2-q21.3
  JOURNAL   J Hum Genet 45 (3), 188-191 (2000)
   PUBMED   10807547
REFERENCE   7  (bases 1 to 3868)
  AUTHORS   Wu,A.L., Wang,J., Zheleznyak,A. and Brown,E.J.
  TITLE     Ubiquitin-related proteins regulate interaction of vimentin
            intermediate filaments with the plasma membrane
  JOURNAL   Mol Cell 4 (4), 619-625 (1999)
   PUBMED   10549293
REFERENCE   8  (bases 1 to 3868)
  AUTHORS   Ozaki,T., Hanaoka,E., Naka,M., Nakagawara,A. and Sakiyama,S.
  TITLE     Cloning and characterization of rat BAT3 cDNA
  JOURNAL   DNA Cell Biol 18 (6), 503-512 (1999)
   PUBMED   10390159
REFERENCE   9  (bases 1 to 3868)
  AUTHORS   Ozaki,T., Kondo,K., Nakamura,Y., Ichimiya,S., Nakagawara,A. and
            Sakiyama,S.
  TITLE     Interaction of DA41, a DAN-binding protein, with the epidermal
            growth factor-like protein, S(1-5)
  JOURNAL   Biochem Biophys Res Commun 237 (2), 245-250 (1997)
   PUBMED   9268694
REFERENCE   10 (bases 1 to 3868)
  AUTHORS   Ozaki,T., Hishiki,T., Toyama,Y., Yuasa,S., Nakagawara,A. and
            Sakiyama,S.
  TITLE     Identification of a new cellular protein that can interact
            specifically with DAN
  JOURNAL   DNA Cell Biol 16 (8), 985-991 (1997)
   PUBMED   9303440
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA317805.1, AK074535.1,
            AL136643.1 and BC039294.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_013438.4.
            
            Summary: This gene encodes an ubiquitin-like protein (ubiquilin)
            that shares a high degree of similarity with related products in
            yeast, rat and frog. Ubiquilins contain an N-terminal
            ubiquitin-like domain and a C-terminal ubiquitin-associated domain.
            They physically associate with both proteasomes and ubiquitin
            ligases, and thus are thought to functionally link the
            ubiquitination machinery to the proteasome to affect in vivo
            protein degradation. This ubiquilin has also been shown to modulate
            accumulation of presenilin proteins, and it is found in lesions
            associated with Alzheimer's and Parkinson's disease. Two transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and it encodes the longer protein (isoform 1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC039294.1, AL136643.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000376395.9/ ENSP00000365576.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-231               DA317805.1         296-526
            232-1229            AK074535.1         479-1476
            1230-2958           AL136643.1         1229-2957
            2959-3868           BC039294.1         2945-3854
FEATURES             Location/Qualifiers
     source          1..3868
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q21.32"
     gene            1..3868
                     /gene="UBQLN1"
                     /gene_synonym="DA41; DSK2; PLIC-1; UBQN; XDRP1"
                     /note="ubiquilin 1"
                     /db_xref="GeneID:29979"
                     /db_xref="HGNC:HGNC:12508"
                     /db_xref="MIM:605046"
     exon            1..459
                     /gene="UBQLN1"
                     /gene_synonym="DA41; DSK2; PLIC-1; UBQN; XDRP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             280..2049
                     /gene="UBQLN1"
                     /gene_synonym="DA41; DSK2; PLIC-1; UBQN; XDRP1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     hPLIC-1; protein linking IAP with cytoskeleton 1;
                     testicular tissue protein Li 219; DSK2 homolog"
                     /codon_start=1
                     /product="ubiquilin-1 isoform 1"
                     /protein_id="NP_038466.2"
                     /db_xref="CCDS:CCDS6663.1"
                     /db_xref="GeneID:29979"
                     /db_xref="HGNC:HGNC:12508"
                     /db_xref="MIM:605046"
                     /translation="MAESGESGGPPGSQDSAAGAEGAGAPAAAASAEPKIMKVTVKTP
                     KEKEEFAVPENSSVQQFKEEISKRFKSHTDQLVLIFAGKILKDQDTLSQHGIHDGLTV
                     HLVIKTQNRPQDHSAQQTNTAGSNVTTSSTPNSNSTSGSATSNPFGLGGLGGLAGLSS
                     LGLNTTNFSELQSQMQRQLLSNPEMMVQIMENPFVQSMLSNPDLMRQLIMANPQMQQL
                     IQRNPEISHMLNNPDIMRQTLELARNPAMMQEMMRNQDRALSNLESIPGGYNALRRMY
                     TDIQEPMLSAAQEQFGGNPFASLVSNTSSGEGSQPSRTENRDPLPNPWAPQTSQSSSA
                     SSGTASTVGGTTGSTASGTSGQSTTAPNLVPGVGASMFNTPGMQSLLQQITENPQLMQ
                     NMLSAPYMRSMMQSLSQNPDLAAQMMLNNPLFAGNPQLQEQMRQQLPTFLQQMQNPDT
                     LSAMSNPRAMQALLQIQQGLQTLATEAPGLIPGFTPGLGALGSTGGSSGTNGSNATPS
                     ENTSPTAGTTEPGHQQFIQQMLQALAGVNPQLQNPEVRFQQQLEQLSAMGFLNREANL
                     QALIATGGDINAAIERLLGSQPS"
     exon            460..611
                     /gene="UBQLN1"
                     /gene_synonym="DA41; DSK2; PLIC-1; UBQN; XDRP1"
                     /inference="alignment:Splign:2.1.0"
     exon            612..727
                     /gene="UBQLN1"
                     /gene_synonym="DA41; DSK2; PLIC-1; UBQN; XDRP1"
                     /inference="alignment:Splign:2.1.0"
     exon            728..990
                     /gene="UBQLN1"
                     /gene_synonym="DA41; DSK2; PLIC-1; UBQN; XDRP1"
                     /inference="alignment:Splign:2.1.0"
     exon            991..1149
                     /gene="UBQLN1"
                     /gene_synonym="DA41; DSK2; PLIC-1; UBQN; XDRP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1150..1384
                     /gene="UBQLN1"
                     /gene_synonym="DA41; DSK2; PLIC-1; UBQN; XDRP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1385..1527
                     /gene="UBQLN1"
                     /gene_synonym="DA41; DSK2; PLIC-1; UBQN; XDRP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1528..1611
                     /gene="UBQLN1"
                     /gene_synonym="DA41; DSK2; PLIC-1; UBQN; XDRP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1612..1727
                     /gene="UBQLN1"
                     /gene_synonym="DA41; DSK2; PLIC-1; UBQN; XDRP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1728..1896
                     /gene="UBQLN1"
                     /gene_synonym="DA41; DSK2; PLIC-1; UBQN; XDRP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1897..3868
                     /gene="UBQLN1"
                     /gene_synonym="DA41; DSK2; PLIC-1; UBQN; XDRP1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3848..3853
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UBQLN1"
                     /gene_synonym="DA41; DSK2; PLIC-1; UBQN; XDRP1"
                     /note="hexamer: AATAAA"
     polyA_site      3868
                     /gene="UBQLN1"
                     /gene_synonym="DA41; DSK2; PLIC-1; UBQN; XDRP1"
                     /note="major polyA site"
ORIGIN      
        1 agggaggagg aagcggtggc tgctgcggat gtcggtgtga gcgagcggcg cctgaacaca
       61 cggcggctgc cgagcgcctg acccgggcct gcgccagagc ctgcaccgag ctccggggcc
      121 ccacacccgc tacggtggcc ctgcgcccgt tgctactgag gcggcgtgct ctgcattctt
      181 cgctgtccag gcctgccggc tctggtgtct gctggctcct ccttgctcgc ctgctccctc
      241 ctgcttgcct gagtcaccgc cgccgccgcc gccacagcca tggccgagag tggtgaaagc
      301 ggcggtcctc cgggctccca ggatagcgcc gccggagccg aaggtgctgg cgcccccgcg
      361 gccgctgcct ccgcggagcc caaaatcatg aaagtcaccg tgaagacccc gaaggaaaag
      421 gaggaattcg ccgtgcccga gaatagctcc gtccagcagt ttaaggaaga aatctctaaa
      481 cgttttaaat cacatactga ccaacttgtg ttgatatttg ctggaaaaat tttgaaagat
      541 caagatacct tgagtcagca tggaattcat gatggactta ctgttcacct tgtcattaaa
      601 acacaaaaca ggcctcagga tcattcagct cagcaaacaa atacagctgg aagcaatgtt
      661 actacatcat caactcctaa tagtaactct acatctggtt ctgctactag caaccctttt
      721 ggtttaggtg gccttggggg acttgcaggt ctgagtagct tgggtttgaa tactaccaac
      781 ttctctgaac tacagagtca gatgcagcga caacttttgt ctaaccctga aatgatggtc
      841 cagatcatgg aaaatccctt tgttcagagc atgctctcaa atcctgacct gatgagacag
      901 ttaattatgg ccaatccaca aatgcagcag ttgatacaga gaaatccaga aattagtcat
      961 atgttgaata atccagatat aatgagacaa acgttggaac ttgccaggaa tccagcaatg
     1021 atgcaggaga tgatgaggaa ccaggaccga gctttgagca acctagaaag catcccaggg
     1081 ggatataatg ctttaaggcg catgtacaca gatattcagg aaccaatgct gagtgctgca
     1141 caagagcagt ttggtggtaa tccatttgct tccttggtga gcaatacatc ctctggtgaa
     1201 ggtagtcaac cttcccgtac agaaaataga gatccactac ccaatccatg ggctccacag
     1261 acttcccaga gttcatcagc ttccagcggc actgccagca ctgtgggtgg cactactggt
     1321 agtactgcca gtggcacttc tgggcagagt actactgcgc caaatttggt gcctggagta
     1381 ggagctagta tgttcaacac accaggaatg cagagcttgt tgcaacaaat aactgaaaac
     1441 ccacaactga tgcaaaacat gttgtctgcc ccctacatga gaagcatgat gcagtcacta
     1501 agccagaatc ctgaccttgc tgcacagatg atgctgaata atcccctatt tgctggaaat
     1561 cctcagcttc aagaacaaat gagacaacag ctcccaactt tcctccaaca aatgcagaat
     1621 cctgatacac tatcagcaat gtcaaaccct agagcaatgc aggccttgtt acagattcag
     1681 cagggtttac agacattagc aacggaagcc ccgggcctca tcccagggtt tactcctggc
     1741 ttgggggcat taggaagcac tggaggctct tcgggaacta atggatctaa cgccacacct
     1801 agtgaaaaca caagtcccac agcaggaacc actgaacctg gacatcagca gtttattcag
     1861 cagatgctgc aggctcttgc tggagtaaat cctcagctac agaatccaga agtcagattt
     1921 cagcaacaac tggaacaact cagtgcaatg ggatttttga accgtgaagc aaacttgcaa
     1981 gctctaatag caacaggagg tgatatcaat gcagctattg aaaggttact gggctcccag
     2041 ccatcatagc agcatttctg tatcttgaaa aaatgtaatt tatttttgat aacggctctt
     2101 aaactttaaa atacctgctt tatttcattt tgactcttgg aattctgtgc tgttataaac
     2161 aaacccaata tgatgcattt taaggtggag tacagtaaga tgtgtgggtt tttctgtatt
     2221 tttcttttct ggaacagtgg gaattaaggc tactgcatgc atcacttctg catttattgt
     2281 aattttttaa aaacatcacc ttttatagtt gggtgaccag attttgtcct gcatctgtcc
     2341 agtttatttg ctttttaaac attagcctat ggtagtaatt tatgtagaat aaaagcatta
     2401 aaaagaagca aatcatttgc actctataat ttgtggtaca gtattgctta ttgtgacttt
     2461 ggcatgcatt tttgcaaaca atgctgtaag atttatacta ctgataattt tgttttattt
     2521 gtatacaata tagagtatgc acatttggga ctgcatttct ggaaacatac tgcaataggc
     2581 tctctgagca aaacacctgt aactaaaaaa gtgaagataa gaaaatactc ttaaagctga
     2641 gtatttccta attgtataga atcttacagc atctttgaca aacatctccc agcaaaagtg
     2701 ccggttagtc aggtttgttg aaaatacagt agaaaagctg attctggtta tctctttaag
     2761 gacaattaat tgtacagaca cataatgtaa cattgtctca acattcattc acagattgac
     2821 tgtaaattac cttaatcttt gtgcagactg aaggaacact gtagtatacc ccaaagtgca
     2881 tttgcctagg acttctcagc ttctcccata ggtagtttaa caggcattaa aatttgtaat
     2941 tgaaatgttg ctttcactga aaaagtgtct tgatgtttca gttattttta atcgccataa
     3001 aaaaatagaa ctatcttttg ggtttatctg ttttctcatg cacaggcaat acacaaattt
     3061 aaaatgagtt gtgagccaat tgtttctgaa gtgttttggt agttctatta agaaatagtt
     3121 aaatattgtg cttttcagag cctcagagaa agggggacgg ggtggggggg tggggcagcg
     3181 gaatctgtcc tggatggggc cagcttaaat aatactggca accaagattc tgttaggatt
     3241 tctgtgcata tagtgtagta aagaagtatc attcaggggt gaaaaacaaa gagccgtttt
     3301 aatgatgttg agtacatttg gctgttttat agcctttttc ttccctcccc caaagaattc
     3361 tgtttgccta actcccaaac tgttggggtg gtacattcct ttaggaccaa ttaaaacata
     3421 attgagggtc agtgatacat ttggctgact ctggttcagt attctcttag gtgattatat
     3481 tctctcatgt acagttacag gaaattaaaa tgttaaagta acctaaaatg aattcagacc
     3541 aataaaatca agggaaatac aagttgattg cattacttct gtatgttgct tgctattaaa
     3601 aaggttaaga ggccaggtta cccaccagtc cttgcactgt tctgacactt tccccaggag
     3661 gaaaacaagt acaaaggtta cggtggaggc ataagtagaa gagattgtta agaagggtat
     3721 tcatgtgtct ttgctctttc tgctttatgc ctcagtttgg tttaaaaact tctgtactgg
     3781 caaatggtgg tattcagtgt gggatagtgt cataactaat ttgacaattt attaatcata
     3841 aaataacaat aaatctctag cttttaca
//
